Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
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SUBMITTER: Legue J
PROVIDER: S-EPMC7453031 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
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Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
Legué Juno J François Jules H M JHM van Rijswijk Carla S P CSP van Brakel Thomas J TJ
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 20200901 3
Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been reclassified together with Fontaine syndrome as Fontaine progeroid syndrome (FPS), after a common genetic basis was found. It was previously thought that GCMS/FPS was not associated with aortopathy, but in recent years 3 patients with aortic disease have been described. We describe the fourth case, who is ...[more]
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